Inborn metabolic diseases: diagnosis and treatment
Saved in:
| Format: | Book |
|---|---|
| Language: | English |
| Published: |
Berlin [u.a.]
Springer
1995
|
| Edition: | 2. ed. |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Item Description: | Literaturangaben |
| Physical Description: | XV, 442 S. Ill., graph. Darst. |
| ISBN: | 354058546X |
Staff View
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| 245 | 1 | 0 | |a Inborn metabolic diseases |b diagnosis and treatment |c J. Fernandes ... (eds.) |
| 250 | |a 2. ed. | ||
| 264 | 1 | |a Berlin [u.a.] |b Springer |c 1995 | |
| 300 | |a XV, 442 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
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| 338 | |b nc |2 rdacarrier | ||
| 500 | |a Literaturangaben | ||
| 650 | 7 | |a Aangeboren afwijkingen |2 gtt | |
| 650 | 2 | |a Erreurs innées du métabolisme - Diagnostic | |
| 650 | 2 | |a Erreurs innées du métabolisme - Thérapeutique | |
| 650 | 2 | |a Maladies métaboliques | |
| 650 | 7 | |a Stofwisselingsziekten |2 gtt | |
| 650 | 4 | |a Metabolism, Inborn Errors |x diagnosis | |
| 650 | 4 | |a Metabolism, Inborn Errors |x therapy | |
| 650 | 4 | |a Metabolism, Inborn errors of | |
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Record in the Search Index
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| adam_text |
CONTENTS
PART
I
DIAGNOSIS
AND
TREATMENT:
GENERAL
PRINCIPLES
1
CLINICAL
APPROACH
TO
INHERITED
METABOLIC
DISEASES
J.-M.
S
AUDUBRAY
,
H.
O
GIER
,
AND
C.
C
HARPENTIER
.
3
2
DIAGNOSTIC
PROCEDURES:
FUNCTION
TESTS
AND
POSTMORTEM
PROTOCOL
J.
F
ERNANDES
AND
J.-M.
S
AUDUBRAY
.
41
3
EMERGENCY
TREATMENTS
H.
O
GIER
AND
J.-M.
S
AUDUBRAY
.
47
4
PSYCHOSOCIAL
CARE
OF
THE
CHILD
AND
FAMILY
J.
C.
H
ARRIS
.
57
PART
II
CARBOHYDRATE
METABOLISM
5
GLYCOGEN
STORAGE
DISEASES
J.
F
ERNANDES
AND
Y.-T.
C
HEN
.
71
6
DISORDERS
OF
GALACTOSE
METABOLISM
R.
G
ITZELMANN
.
87
7
DISORDERS
OF
FRUCTOSE
METABOLISM
G.
V
AN
DEN
B
ERGHE
.
95
8
DISORDERS
OF
GLUCONEOGENESIS
N.R.M.
B
UIST
.
101
PART
III
MITOCHONDRIAL
ENERGY
METABOLISM
9
THE
PYRUVATE
DEHYDROGENASE
COMPLEX
AND
TRICARBOXYLIC
ACID
CYCLE
D.S.
K
ERR
AND
A.B.
Z
INN
.
109
10
THE
RESPIRATORY
CHAIN
A.
M
UNNICH
.
121
11
DISORDERS
OF
FATTY
ACID
OXIDATION
C.A.
S
TANLEY
.
133
VIII
CONTENTS
PART
IV
AMINOACIDS
12
HYPERPHENYLALANINAEMIAS
I.
S
MITH
AND
D.P.
B
RENTON
.
147
13
TYROSINE
E.A.
K
VITTINGEN
,
P.T.
C
LAYTON
,
AND
J.V.
L
EONARD
.
161
14
UREA
CYCLE
DISORDERS
J.V.
L
EONARD
.
167
15
HOMOCYSTINURIA
DUE
TO
CYSTATHIONINE
/3-SYNTHASE
DEFICIENCY
AND
RELATED
DISORDERS
G.
A
NDRIA
AND
G.
S
EBASTIO
.
177
16
ORNITHINE
V.E.
S
HIH
.
183
17
NONKETOTIC
HYPERGLYCINEMIA
K.
T
ADA
.
191
PART
V
PEPTIDE
METABOLISM
18
DISORDERS
OF
THE
GAMMA
GLUTAMYL
CYCLE
A.
L
ARSSON
.
197
19
DISORDERS
OF
SMALL
PEPTIDES
J.
J
AEKEN
.
201
PART
VI
ORGANIC
ACIDS
20
BRANCHED-CHAIN
ORGANIC
ACIDURIAS
H.
O
GIER
,
U.
W
ENDEL
,
AND
J.-M.
S
AUDUBRAY
.
207
21
KETOLYSIS
DEFECTS
J.-M.
S
AUDUBRAY
,
N.
S
PECOLA
,
AND
C.
C
HARPENTIER
.
223
22
GLUTARIC
ACIDURIA
TYPE
I
AND
RELATED
CEREBRAL
ORGANIC
ACID
DISORDERS
G.F.
H
OFFMANN
.
229
PART
VII
VITAMIN-RESPONSIVE
DISORDERS
23
BIOTIN-RESPONSIVE
MULTIPLE
CARBOXYLASE
DEFICIENCY
R.
B
AUMGARTNER
AND
T.
S
UORMALA
.
239
24
INHERITED
DISORDERS
OF
COBALAMIN
AND
FOLATE
ABSORPTION
AND
METABOLISM
D.S.
R
OSENBLATT
AND
M.I.
S
HEVELL
.
247
CONTENTS
IX
PART
VIII
LIPIDS
25
DYSLIPIDEMIAS
G.
A
SSMANN
,
A.
VON
E
CKARDSTEIN
,
AND
P.
C
ULLEN
.
261
PART
IX
NUCLEIC
ACIDS
26
DISORDERS
OF
PURINE
AND
PYRIMIDINE
METABOLISM
G.
V
AN
DEN
B
ERGHE
AND
M.F.
V
INCENT
.
289
PART
X
NEUROTRANSMITTERS
27
DISORDERS
OF
NEUROTRANSMITTERS
J.
J
AEKEN
AND
C.
J
AKOBS
.
305
PART
XI
METALS
28
COPPER:
WILSON
AND
MENKES
DISEASES
D.M.
D
ANKS
.
317
29
GENETIC
DEFECTS
RELATED
TO
METALS
OTHER
THAN
COPPER
I.
L
OMBECK
.
325
PART
XII
PORPHYRINS
AND
HEME
30
PORPHYRIAS
Y.
N
ORDMANN
.
333
31
INBORN
ERRORS
OF
BILE
ACID
SYNTHESIS
P.T.
C
LAYTON
.
341
32
BILIRUBIN
N.
Y
AZIGI
AND
W.F.
B
ALISTRERI
.
349
PART
XIII
MEMBRANE
TRANSPORT
33
ALPHA-L-ANTITRYPSIN
DEFICIENCY
D.J.F.
F
EIST
.
361
34
TRANSPORT
DEFECTS
OF
AMINO
ACIDS
AT
THE
CELL
MEMBRANE:
CYSTINURIA,
HARTNUP
DISEASE,
AND
LYSINURIC
PROTEIN
INTOLERANCE
O.
S
IMELL
AND
K.
P
ARTO
.
365
PART
XIV
ORGANELLE
DISORDERS:
LYSOSOMES,
GOLGI
AND
PRE-GOLGI
SYSTEMS,
PEROXISOMES
35
SPHINGOLIPIDS
P.G.
B
ARTH
.
375
X
CONTENTS
36
MUCOPOLYSACCHARIDES
AND
OLIGOSACCHARIDES
M.
B
ECK
AND
J.
S
PRANGER
.
383
37
CYSTINOSIS
M.
B
ROYER
.
389
38
CARBOHYDRATE-DEFICIENT
GLYCOPROTEIN
SYNDROMES
J.
J
AEKEN
.
395
39
PEROXISOMAL
DISORDERS
B.T.
P
OLL
-T
HE
AND
J.-M.
S
AUDUBRAY
.
399
40
OXALOSIS
(PRIMARY
HYPEROXALURIA)
M.F.
G
AGNADOUX
AND
M.
B
ROYER
.
411
PART
XV
NEW
TRENDS
OF
TREATMENT
41
LIVER
TRANSPLANTATION
O.
B
ERNARD
.
417
42
BONE
MARROW
TRANSPLANTATION
P.M.
H
OOGERBRUGGE
AND
J.M.J.J.
V
OSSEN
.
423
43
SOMATIC
GENE
THERAPY
F.D.
L
EDLEY
.
429
SUBJECT
INDEX
.
439 |
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| indexdate | 2024-08-22T00:47:38Z |
| institution | BVB |
| isbn | 354058546X |
| language | English |
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| physical | XV, 442 S. Ill., graph. Darst. |
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| spelling | Inborn metabolic diseases diagnosis and treatment J. Fernandes ... (eds.) 2. ed. Berlin [u.a.] Springer 1995 XV, 442 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Literaturangaben Aangeboren afwijkingen gtt Erreurs innées du métabolisme - Diagnostic Erreurs innées du métabolisme - Thérapeutique Maladies métaboliques Stofwisselingsziekten gtt Metabolism, Inborn Errors diagnosis Metabolism, Inborn Errors therapy Metabolism, Inborn errors of Angeborene Krankheit (DE-588)4331107-6 gnd rswk-swf Stoffwechselkrankheit (DE-588)4057700-4 gnd rswk-swf Stoffwechselkrankheit (DE-588)4057700-4 s Angeborene Krankheit (DE-588)4331107-6 s DE-604 Fernandes, John 1921-2006 Sonstige (DE-588)133265595 oth DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=006650614&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Inborn metabolic diseases diagnosis and treatment Aangeboren afwijkingen gtt Erreurs innées du métabolisme - Diagnostic Erreurs innées du métabolisme - Thérapeutique Maladies métaboliques Stofwisselingsziekten gtt Metabolism, Inborn Errors diagnosis Metabolism, Inborn Errors therapy Metabolism, Inborn errors of Angeborene Krankheit (DE-588)4331107-6 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| subject_GND | (DE-588)4331107-6 (DE-588)4057700-4 |
| title | Inborn metabolic diseases diagnosis and treatment |
| title_auth | Inborn metabolic diseases diagnosis and treatment |
| title_exact_search | Inborn metabolic diseases diagnosis and treatment |
| title_full | Inborn metabolic diseases diagnosis and treatment J. Fernandes ... (eds.) |
| title_fullStr | Inborn metabolic diseases diagnosis and treatment J. Fernandes ... (eds.) |
| title_full_unstemmed | Inborn metabolic diseases diagnosis and treatment J. Fernandes ... (eds.) |
| title_short | Inborn metabolic diseases |
| title_sort | inborn metabolic diseases diagnosis and treatment |
| title_sub | diagnosis and treatment |
| topic | Aangeboren afwijkingen gtt Erreurs innées du métabolisme - Diagnostic Erreurs innées du métabolisme - Thérapeutique Maladies métaboliques Stofwisselingsziekten gtt Metabolism, Inborn Errors diagnosis Metabolism, Inborn Errors therapy Metabolism, Inborn errors of Angeborene Krankheit (DE-588)4331107-6 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| topic_facet | Aangeboren afwijkingen Erreurs innées du métabolisme - Diagnostic Erreurs innées du métabolisme - Thérapeutique Maladies métaboliques Stofwisselingsziekten Metabolism, Inborn Errors diagnosis Metabolism, Inborn Errors therapy Metabolism, Inborn errors of Angeborene Krankheit Stoffwechselkrankheit |
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